Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2827019134

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718047

ClinVar RCV Id: RCV002304844

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Ser1184Arg	CA394291960 NM_001318832.2:c.3550A>C CA394291979 NM_001318832.2:c.3552C>A CA394291987 NM_001318832.2:c.3552C>G